日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration

ADAT3 变体破坏 ADAT tRNA 脱氨酶复合物的活性,并损害神经元迁移。

Del-Pozo-Rodriguez, Jordi; Tilly, Peggy; Lecat, Romain; Vaca, Hugo Rolando; Mosser, Laureline; Brivio, Elena; Balla, Till; Gomes, Marina Vitoria; Ramos-Morales, Elizabeth; Schwaller, Noémie; Salinas-Giegé, Thalia; VanNoy, Grace; England, Eleina M; Kern Lovgren, Alysia; O'Leary, Melanie; Chopra, Maya; Meave Ojeda, Naomi; Toosi, Mehran Beiraghi; Eslahi, Atieh; Alerasool, Masoome; Mojarrad, Majid; Pais, Lynn S; Yeh, Rebecca C; Gable, Dustin L; Hashem, Mais O; Abdulwahab, Firdous; Rakiz Alqurashi, Muath; Sbeih, Loai Z; Adas Blanco, Omar Abu; Khater, Renad Abu; Oprea, Gabriela; Rad, Aboulfazl; Alzaidan, Hamad; Aldhalaan, Hesham; Tous, Ehab; Alsagheir, Afaf; Alowain, Mohammed; Tamim, Abdullah; Alfayez, Khowlah; Alhashem, Amal; Alnuzha, Aisha; Kamel, Mona; Al-Awam, Bashayer S; Elnaggar, Walaa; Almenabawy, Nihal; O'Donnell-Luria, Anne; Neil, Jennifer E; Gleeson, Joseph G; Walsh, Christopher A; Alkuraya, Fowzan S; AlAbdi, Lama; Elkhateeb, Nour; Selim, Laila; Srivastava, Siddharth; Nedialkova, Danny D; Drouard, Laurence; Romier, Christophe; Bayam, Efil; Godin, Juliette D

Validity of the Arabic Version of the PROMIS Anxiety and PROMIS Depression in Cancer Questionnaires: Measuring Depression and Anxiety in Oncologic Patients in Saudi Arabia-A Rasch Analysis Study

PROMIS焦虑和PROMIS抑郁问卷阿拉伯语版在沙特阿拉伯癌症患者中的有效性:一项Rasch分析研究

Bakhsh, Hadeel R; Bin Sheeha, Bodor; Tesio, Luigi; Simone, Anna; Scarano, Stefano; Alowain, Nouf; Bin Dayel, Ghada A; Aldhahi, Monira I; Alhasani, Rehab; Caronni, Antonio

Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1-CDG)

一名患有磷酸葡萄糖变位酶 1 缺乏症 (PGM1-CDG) 的婴儿成功接受了心脏移植手术

Altassan, Ruqaiah; Albert-Brotons, Dimpna C; Alowain, Mohammad; Al-Halees, Zohair; Jaeken, Jaak; Morava, Eva

A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families

沙特阿拉伯两个近亲家庭中发现RTN4IP1基因的新型纯合创始变异

Mazhor Aldosary ,Maysoon Alsagob ,Hanan AlQudairy ,Ana C González-Álvarez ,Stefan T Arold ,Mohammad Anas Dababo ,Omar A Alharbi ,Rawan Almass ,AlBandary AlBakheet ,Dalia AlSarar ,Alya Qari ,Mysoon M Al-Ansari ,Monika Oláhová ,Saif A Al-Shahrani ,Moeenaldeen AlSayed ,Dilek Colak ,Robert W Taylor ,Mohammed AlOwain ,Namik Kaya

The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients

18例沙特阿拉伯婴儿期发病庞贝病患者的表型、基因型和预后

Al-Hassnan, Zuhair N; Khalifa, Ola A; Bubshait, Dalal K; Tulbah, Sahar; Alkorashy, Maarab; Alzaidan, Hamad; Alowain, Mohammed; Rahbeeni, Zuhair; Al-Sayed, Moeen

Warsaw breakage syndrome: Further clinical and genetic delineation

华沙断裂综合征:进一步的临床和遗传学描述

Alkhunaizi, Ebba; Shaheen, Ranad; Bharti, Sanjay Kumar; Joseph-George, Ann M; Chong, Karen; Abdel-Salam, Ghada M H; Alowain, Mohammed; Blaser, Susan I; Papsin, Blake C; Butt, Mohammed; Hashem, Mais; Martin, Nicole; Godoy, Ruth; Brosh, Robert M Jr; Alkuraya, Fowzan S; Chitayat, David

Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract

通过临床基因组学方法鉴定出儿童白内障的新表型和基因位点

Patel, Nisha; Anand, Deepti; Monies, Dorota; Maddirevula, Sateesh; Khan, Arif O; Algoufi, Talal; Alowain, Mohammed; Faqeih, Eissa; Alshammari, Muneera; Qudair, Ahmed; Alsharif, Hadeel; Aljubran, Fatimah; Alsaif, Hessa S; Ibrahim, Niema; Abdulwahab, Firdous M; Hashem, Mais; Alsedairy, Haifa; Aldahmesh, Mohammed A; Lachke, Salil A; Alkuraya, Fowzan S